Zobrazeno 1 - 10
of 15
pro vyhledávání: '"A. M. Simckes"'
Autor:
Bernd Hoppe, Robert L. Nussbaum, Burkhard Toenshoff, János Mátyus, Richard R. Hoopes, Antony E. Shrimpton, Sharon F. Suchy, Velibor Tasic, Ari M. Simckes, Paul Hueber, Steven J. Scheinman, Stephen J. Knohl
Publikováno v:
The American Journal of Human Genetics. 76:260-267
Dent disease is an X-linked renal proximal tubulopathy associated with mutations in the chloride channel gene CLCN5. Lowe syndrome, a multisystem disease characterized by renal tubulopathy, congenital cataracts, and mental retardation, is associated
Autor:
Santiago Rodríguez de Córdoba, David Pérez-Caballero, Olatz Huarte, Margarita López-Trascasa, Elena Goicoechea, Pilar Sánchez-Corral, Ari M. Simckes
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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Genetic studies have demonstrated the involvement of the complement regulator factor H in nondiarrheal, nonverocytotoxin (i.e., atypical) cases of hemolytic uremic syndrome. Different factor H mutations have been identified in 10%-30% of patients wit
Publikováno v:
Clinical Pediatrics. 41:549-564
With recent technological advances, 24-hour ambulatory blood pressure (BP) monitoring (ABPM) has become a useful tool for the evaluation, diagnosis, and management of hypertensive children. It provides a more accurate representation of an individual'
Publikováno v:
American Journal of Medical Genetics. 108:219-222
A 6-year-old boy was determined to have partial hypoxanthine phosphoribosyl transferase (HPRT) enzyme deficiency without the phenotypic features of Lesch-Nyhan syndrome. He presented with recurrent acute renal failure (ARF) from hyperuricemia. Treatm
Autor:
Uri S. Alon, Gad Kainer, Howard Trachtman, Shashi K. Nagaraj, Daniel W. McKenney, A. M. Simckes, Laurence Greenbaum
Publikováno v:
Pediatric Nephrology. 15:66-69
Technological improvements have reduced the frequency of complications in children receiving a percutaneous renal biopsy. No study has systematically compared the safety of open and percutaneous kidney biopsy. Yet many nephrologists consider a single
Publikováno v:
Cytogenetic and genome research. 97(1-2)
Vacuolar-H(+)-ATPase (V-H-ATPase) is a large multimeric protein composed of at least 12 distinct subunits. The 16-kDa hydrophobic proteolipid subunit (ATP6V0C; ATPase, H(+ )transporting, lysosomal 16 kDa, V0 subunit C) plays a central role in H(+) tr
Publikováno v:
Pediatric nephrology (Berlin, Germany). 14(10-11)
Renal biopsy is crucial for the diagnosis, management, and monitoring of many kidney diseases. Although percutaneous renal biopsy is considered a routine safe procedure in children, the optimal length of in-hospital observation following the procedur
Publikováno v:
American journal of kidney diseases : the official journal of the National Kidney Foundation. 35(6)
Peritoneal dialysis (PD) is the most common form of renal replacement therapy in infants and young children with acute renal failure (ARF). The two most commonly used catheters for performing acute PD are the Cook catheter (CC), placed at the bedside
Publikováno v:
Pediatric nephrology (Berlin, Germany). 13(6)
Publikováno v:
The Journal of urology. 155(2)